Aqua M S, Rizzu P, Lindsay E A, Shaffer L G, Zackai E H, Overhauser J, Baldini A
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Am J Med Genet. 1995 Jan 2;55(1):33-7. doi: 10.1002/ajmg.1320550111.
The phenotype of dup(3q) syndrome partially overlaps with Brachmann-de Lange phenotype. Convulsions and eye, palate renal, and cardiac anomalies are more frequent in dup(3q) syndrome, while limb deficiencies, hirsutism, and synophrys are more characteristic of Brachmann-de Lange syndrome. Whether the two syndromes have a biological relationship has yet to be demonstrated. Using two patient translocation cell lines, each involving distal 3q, we have narrowed the critical region of the dup(3q) syndrome to the interval 3q26.31-q27.3 and initiated its molecular characterization. We have mapped in this region 6 cosmid clones spanning approximately 3-5 Mb. The critical region appears to overlap with the region where a balanced translocation was found in a Brachmann-de Lange patient. This work provides the mapping framework for finer molecular analysis of dup(3q) syndrome.
dup(3q)综合征的表型与布腊克曼-德朗热综合征的表型部分重叠。惊厥以及眼、腭、肾和心脏异常在dup(3q)综合征中更为常见，而肢体缺陷、多毛症和连眉在布腊克曼-德朗热综合征中更具特征性。这两种综合征是否存在生物学关系尚待证实。利用两个患者易位细胞系（每个细胞系均涉及3q远端），我们已将dup(3q)综合征的关键区域缩小至3q26.31-q27.3区间，并开始对其进行分子特征分析。我们已在该区域定位了6个黏粒克隆，其跨度约为3-5 Mb。关键区域似乎与在一名布腊克曼-德朗热综合征患者中发现平衡易位的区域重叠。这项工作为dup(3q)综合征更精细的分子分析提供了定位框架。
